Article
[Priapism: a severe paediatric complication of Fabry disease].
La Revue de medecine interne - 1 Dec 2010
Labarthe F, de Bodman C, Maruani A, Szwarc C, Froissart R, Lorette G, Lardy H
Abstract excerpt
Fabry disease is an X-linked recessive lysosomal storage disorder caused by α-galactosidase A deficiency. Although the disease presents in childhood, diagnosis is often delayed to adulthood or missed, presumably due to the lack of specificity of the symptoms and to the absence of major complication during the paediatric years. We report a 9-year-old boy known to have a Fabry disease who presented an episode of...
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